Canonical Allele Identifier: CA403116174
Gene: FCER2 HGNC NCBI

Linked Data

dbSNP Id: rs1464019006
gnomAD v2: 19-7763256-C-A
gnomAD v4: 19-7698370-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7698370C>A , CM000681.2:g.7698370C>A GRCh38
NC_000019.9:g.7763256C>A , CM000681.1:g.7763256C>A GRCh37
NC_000019.8:g.7669256C>A NCBI36
NG_029554.1:g.8777G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000597921.6:c.176G>T MANE Select ENSP00000471974.1:p.Arg59Met
ENST00000346664.9:c.176G>T ENSP00000264072.6:p.Arg59Met
ENST00000360067.8:c.173G>T ENSP00000353178.4:p.Arg58Met
ENST00000593418.1:c.176G>T ENSP00000472067.1:p.Arg59Met
ENST00000597312.5:n.701G>T
ENST00000597921.5:c.176G>T ENSP00000471974.1:p.Arg59Met
ENST00000597934.1:n.378G>T
ENST00000598803.5:n.671G>T
NM_001207019.2:c.173G>T NP_001193948.2:p.Arg58Met
NM_001220500.1:c.176G>T NP_001207429.1:p.Arg59Met
NM_002002.4:c.176G>T NP_001993.2:p.Arg59Met
XM_005272462.3:c.176G>T XP_005272519.1:p.Arg59Met
XM_005272462.4:c.176G>T XP_005272519.1:p.Arg59Met
NM_001220500.2:c.176G>T MANE Select NP_001207429.1:p.Arg59Met
NM_001207019.3:c.173G>T NP_001193948.2:p.Arg58Met
NM_002002.5:c.176G>T NP_001993.2:p.Arg59Met